CYP17A1
Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:609300 Ensembl IDEnsembl:ENSG00000148795 HGNC IDHGNC:HGNC:2593 PHARMGKB IDPA27090 Map Location10q24.32 |
GO terms in CYP17A1
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Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | NAS | GO:0005783 | endoplasmic reticulum |
CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
CC | IEA | GO:0030424 | axon |
CC | IEA | GO:0043025 | neuronal cell body |
BP | TAS | GO:0006694 | steroid biosynthetic process |
BP | TAS | GO:0006702 | androgen biosynthetic process |
Gene expression in normal tissue: CYP17A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CYP17A1
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Database | Pathway ID | Pathway Des. |
---|---|---|
smpdb | SMP00068 | Androgen and Estrogen Metabolism |
smpdb | SMP00130 | Steroidogenesis |
smpdb | SMP00356 | 17-Beta Hydroxysteroid Dehydrogenase III Deficiency |
smpdb | SMP00371 | Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH |
smpdb | SMP00372 | Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia due to 17 Alpha-hydroxylase Deficiency |
smpdb | SMP00373 | Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in CYP17A1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |